Müller J
Department of Growth and Reproduction, Rigshospitalet, Copenhagen, Denmark.
Acta Paediatr Suppl. 1997 Nov;423:58-9. doi: 10.1111/j.1651-2227.1997.tb18371.x.
Disturbances of the hypothalamic-pituitary-gonadal axis are reviewed in patients with Prader-Willi syndrome, and a brief account is given of thyroid function, adrenal function and glucose metabolism in such patients. Cryptorchidism, hypoplastic external genitalia and delayed or incomplete pubertal development in most patients with Prader-Willi syndrome suggest dysfunction of the hypothalamic-pituitary-gonadal axis. Decreased levels of gonadotrophins, consistent with hypogonadotrophic hypogonadism, have been found in some patients, whereas others appear to have hypergonadotrophic hypogonadism secondary to cryptorchidism and its treatment. Gonadal function is normal in a small number of patients with the syndrome. Although most clinicians agree that cryptorchidism should be corrected in early childhood, in practice the surgery is often not performed. In addition, most patients do not receive sex hormone replacement therapy. It is therefore suggested that more aggressive endocrine treatment strategies for hypogonadism are warranted in both children and adults with Prader-Willi syndrome. Both thyroid function and adrenal function appear to be normal in most patients, and glucose metabolism is similar to that in normal obese individuals.
本文综述了普拉德-威利综合征患者下丘脑-垂体-性腺轴的紊乱情况，并简要介绍了此类患者的甲状腺功能、肾上腺功能和糖代谢情况。大多数普拉德-威利综合征患者存在隐睾、外生殖器发育不全以及青春期发育延迟或不完全，提示下丘脑-垂体-性腺轴功能障碍。在一些患者中发现促性腺激素水平降低，符合低促性腺激素性性腺功能减退，而另一些患者似乎继发于隐睾及其治疗的高促性腺激素性性腺功能减退。少数该综合征患者的性腺功能正常。尽管大多数临床医生都认为隐睾应在儿童早期进行矫正，但实际上手术往往并未实施。此外，大多数患者未接受性激素替代治疗。因此，建议对患有普拉德-威利综合征的儿童和成人采用更积极的性腺功能减退内分泌治疗策略。大多数患者的甲状腺功能和肾上腺功能似乎正常，糖代谢与正常肥胖个体相似。
